Canonical Allele Identifier: CA390747597

Gene: GALC

Linked Data

• ClinVar Variation Id: 1458652
• ClinVar RCV Id: RCV001956487
• dbSNP Id: rs1595215209
• gnomAD v4: 14-87965597-T-C
• MyVariant Identifiers: chr14:g.88431941T>C (hg19) ; chr14:g.87965597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965597T>C , CM000676.2:g.87965597T>C	GRCh38
NC_000014.8:g.88431941T>C , CM000676.1:g.88431941T>C	GRCh37
NC_000014.7:g.87501694T>C	NCBI36
NG_011853.2:g.32967A>G
NG_011853.3:g.32967A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.941A>G MANE Select	ENSP00000261304.2:p.Tyr314Cys
ENST00000261304.6:c.941A>G	ENSP00000261304.2:p.Tyr314Cys
ENST00000393568.8:c.872A>G	ENSP00000377198.4:p.Tyr291Cys
ENST00000393569.6:c.863A>G	ENSP00000377199.2:p.Tyr288Cys
ENST00000474294.6:n.931A>G
ENST00000544807.6:c.773A>G	ENSP00000437513.2:p.Tyr258Cys
ENST00000555000.5:c.308A>G	ENSP00000450472.1:p.Tyr103Cys
ENST00000557316.5:c.*339A>G	ENSP00000452314.1:n.*339A>G
ENST00000557520.1:n.27A>G
ENST00000622264.4:c.931A>G
NM_000153.3:c.941A>G	NP_000144.2:p.Tyr314Cys
NM_001201401.1:c.872A>G	NP_001188330.1:p.Tyr291Cys
NM_001201402.1:c.863A>G	NP_001188331.1:p.Tyr288Cys
XM_011536618.1:c.773A>G	XP_011534920.1:p.Tyr258Cys
XM_011536618.2:c.773A>G	XP_011534920.1:p.Tyr258Cys
NM_000153.4:c.941A>G MANE Select	NP_000144.2:p.Tyr314Cys
NM_001201401.2:c.872A>G	NP_001188330.1:p.Tyr291Cys
NM_001201402.2:c.863A>G	NP_001188331.1:p.Tyr288Cys